Researcher finds genetic identifier that can allow clinicians to identify infants at risk for autism -
A researcher at the Hospital and Children Research Institute in Seattle found a genetic identifier of autism that includes physical characteristics that could potentially allow clinicians to identify infants at risk for autism before birth. This is the first time a genetic mutation has been linked to autism.
Dr. Raphael Bernier, clinical director of the Center for Autism Seattle Children's and associate professor at the University of Washington, who led the research in collaboration with 13 institutions worldwide, found a mutation of CHD8 gene that, in addition to significantly increase the risk of developing the child a specific subtype of autism, also causes several physical traits and symptoms that are unique to children with the same subtype autism
physical traits -. subtle facial features, such as larger and important fronts heads - are features that, combined with the confirmation of a mutation of the gene CHD8 could allow clinicians to screen babies in utero to a higher risk of developing the autism, much like the screen now clinicians and genetic indicators of physical disorders such as Down syndrome.
"This is a great leap forward in our survey on the causes of autism," said Bernier, who led the study published today in the scientific journal Cell. "It is possible that we are able to examine in utero characteristics and determine a higher risk of autism, perhaps even early detection. "
Early detection is crucial in treating the symptoms of autism, Bernier said. Behavioral therapies research studies used with younger siblings of children with autism, who are at higher risk of developing autism themselves, suggest that the intervention of three to six months may reduce or even prevent the symptoms develop. The goal, Bernier said, is to be able to use these same exercises on babies with a higher risk of autism that were identified before birth.
"We know that if we can intervene by three or six months of age instead of later in life, we can help children learn important social communication skills, such as eye contact , "he said.
The study, titled "Disruptive CHD8 mutations define a Subtype of autism early in development," followed 6176 children with autism spectrum disorders for nine months. The researchers found that 15 had a mutation CHD8 and that all these cases had similar characteristics in appearance, as well as problems with sleep disorders and gastrointestinal problems, including constipation.
Bernier and his team interviewed all 15 cases with mutations CHD8, and confirmed the results by working with scientists studying zebrafish, a tropical freshwater fish commonly used in research because of its regenerative capacity. The researchers disrupted the gene CHD8 in fish, which then developed large heads and wide eyes. They then fed the fluorescent fish balls and found that the fish were also constipated and had problems throwing food waste.
"For years, parents of children with autism have been telling us gastrointestinal symptoms are real, but science has been slow to respond. Now we have clear evidence that in a subgroup of people with autism, both symptoms of autism and constipation are the result of CHD8 disruptions, "said Bernier.
Bernier said this is the first researchers to time showed a definite cause of autism in a specific gene mutation. genetic mutations identified previously as Fragile X, which represents a greater number of cases of autism are more often associated with other disorders such as intellectual disability, autism. Although less than half a percent of children with autism have the mutation CHD8, Bernier said he is probably one of the most common genetic causes.
"it will be a game changer in how scientists are researching autism," he said. "Autistic children are incredibly diverse that we need to identify the genetic causes of different subtypes of finding effective treatments."
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